Missense mutation (I143T) in a Japanese patient with Canavan disease.
Kobayashi
K
K
Department of Inherited Metabolic Disease, National Institute of Neuroscience, NCNP, Tokyo, Japan.
Tsujino
S
S
Ezoe
T
T
Hamaguchi
H
H
Nihei
K
K
Sakuragawa
N
N
D000581:Amidohydrolases / Q000235:genetics*; D019943:Amino Acid Substitution; D001483:Base Sequence; D017825:Canavan Disease / Q000201:enzymology / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D004247:DNA; D000581:Amidohydrolases; C019751:aspartoacylase